A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4000596



Internal ID19191982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:62382998..62385199hg38UCSC Ensembl
Outerchr9:46694299..46696500hg19UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg382202
hg192202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1148555
Supporting Variants
SamplesKWB1
Known GenesKGFLP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4000596
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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